Background: Out of frame mutations in DMD gene cause Duchenne Muscular Dystrophy (DMD) which is a neuromuscular progressive genetic disorder. In DMD patients, lack of dystrophin causes progressive muscle degeneration, which results in heart and respiratory failure leading to premature death. At present, there is no certain treatment for DMD. DMD gene is the largest gene in human genome by 2.2 mega base pairs and contains 79 exons. In the past few years, gene therapy has been considered a promising DMD treatment, and among various gene-editing technologies, CRISPR/Cas9 system is shown to be more precise and reliable. The aim of this study was to assess the possibility of knocking out exon 48 by using a pair of sgRNAs.
Methods: A pair of guide RNAs (gRNAs) was designed to cleave DMD gene and induce deletion of exon 48. gRNAs were transfected to the HEK-293 cell line and then the deletion in genomic DNA was analyzed by PCR and subsequent Sanger sequencing.
Results: Exon 48 was successfully deleted and therefore exon 47 was joined to exon 49.
Conclusion: This result indicated that CRISPR/Cas9 system could be used to edit DMD gene precisely.
Introduction:Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).Case Presentation:We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU.Conclusions:This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.
Context: Coronavirus disease 2019 (COVID-19) is a viral infectious disease caused by Severe Acute Respiratory Syndrome Coronavirus-2 (SARS CoV 2) that spread around the world rapidly and has become a pandemic and a major global concern. SARS CoV 2 is an enveloped virus with a positive-strand RNA genome that encodes structural and nonstructural viral proteins. Among the structural proteins, spike surface glycoprotein or S protein is necessary for the infection of host cells. Mutations in the S protein can cause dangerous variants of coronaviruses with higher transmission rates that are not easily detectable by routine diagnostic tests and are treatment resistant, leading to a more severe illness and a higher mortality rate. This review aimed to present a comprehensive evaluation of the latest studies on S protein mutations, coronavirus variants, and their relationship with the type, rate, and severity of the cardiovascular disease. Evidence Acquisition: Researchers search GISAID, PubMed/Medline, Google Scholar, Web of Science, Wiley Online Library, and Research Gate for the internationally valid investigation that includes original, reviews, letters or commentaries, or any other published data. Results: Since the outbreak of the COVID-19 pandemic disease, more than 30 mutations in the S protein. The mutations in the S protein increase the affinity and strength of its binding to the host cell receptor. Although the main host of the virus is the respiratory system, Cardiovascular damage, especially myocardial injury, has a significant share in patients with covid-19, which is of great importance due to the increase in the mortality rate. Conclusion: The mutations in the S protein increase the affinity and strength of its binding to the ACE2 receptor. Therefore, the signaling pathways associated with cardiovascular damage and inflammation are activated quickly, causing cardiovascular manifestation, severe forms of the disease, and death as a result of infection with concerning variants of SARS CoV 2.
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